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GTR Home > Conditions/Phenotypes > Radial aplasia-thrombocytopenia syndrome

Radial aplasia-thrombocytopenia syndrome

Synonyms
Absent radii and thrombocytopenia; TAR syndrome; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia absent radii
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Florence Petit
Simon Boussion
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Available tests

63 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1, RBM8A
    Summary: RNA binding motif protein 8A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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